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Article

Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles.

Cellular and molecular biology (Noisy-le-Grand, France) - 1 Nov 1994

Menon K P, Neufeld E F

Abstract excerpt

Mutations in the gene encoding alpha-L-iduronidase (IDUA) are the cause of Hurler syndrome. Fibroblasts from patients homozygous for nonsense IDUA alleles have much reduced mRNA detectable by Northern analysis, as has been observed in many other instances of premature translation termination. Yet RT-PCR (reverse transcription followed by PCR amplification) showed a normal level of a segment covering exons 1 and 2...

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Identifiers

PMID: 7849567

Genes

IDUA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Evidence for degradation of mRNA encoding alpha-L-iduronidase in Hurler fibroblasts with premature termination alleles.PMID 7849567Read ↗

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Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.Semantic proximity Read ↗

Mucopolysaccharidosis type I: characterization of novel mutations affecting alpha-L-iduronidase activity.Semantic proximity Read ↗

Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area.Semantic proximity Read ↗

Premature termination codons in the DMD gene cause reduced local mRNA synthesisSemantic proximity Read ↗

A splice-site mutation that induces exon skipping and reduction in lysyl hydroxylase mRNA levels but does not create a nonsense codon in Ehlers-Danlos syndrome type VI.Semantic proximity Read ↗

Messenger RNA transcripts of the hepatocyte nuclear factor-1alpha gene containing premature termination codons are subject to nonsense-mediated decay.Semantic proximity Read ↗

Nonsense-mediated decay of human HEXA mRNA.Semantic proximity Read ↗

Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.Semantic proximity Read ↗

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